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Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation.

机译:双侧脉络膜新生血管形成与双侧ABCA4基因突变有关。

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To describe a case of ABCA4 gene mutation (G1961E) associated with bilateral choroidal neovascularization (CNV) treated with intravitreal ranibizumab injections.A 52-year-old man with bilateral CNV associated with ABCA4 gene mutation underwent complete ophthalmologic examination over a 30-month follow-up and was treated with intravitreal ranibizumab injections on an as-needed basis.Baseline best-corrected visual acuity (BCVA) was 20/32 in the right eye (RE) and 20/63 in the left eye (LE). Two small CNVs with juxtafoveal location were detectable in the RE, whereas a single subfoveal CNV was visible in the LE. Overall, 6 and 9 intravitreal ranibizumab injections were administered in RE and LE, respectively, during the 30-month follow-up. At the end of the follow-up, BCVA was 20/100 in the RE and 20/200 in the LE.This case report reveals that ABCA4 gene mutation may be complicated by multiple and bilateral CNVs. Intravitreal injection of ranibizumab can achieve temporary CNV stabilization, but cannot guarantee complete quiescence over a long-term follow-up. Other therapeutic approaches could be necessary to accomplish visual acuity preservation.
机译:为了描述玻璃体腔注射兰尼单抗注射治疗与双侧脉络膜新生血管(CNV)相关的ABCA4基因突变(G1961E)的病例。一名52岁的双侧CNV与ABCA4基因突变相关的男性接受了为期30个月的完整眼科检查并根据需要接受玻璃体内雷珠单抗注射治疗。右眼(RE)的基线最佳矫正视力(BCVA)为20/32,左眼(LE)的基线为20/63。在RE中可检测到两个具有近中凹位置的小型CNV,而在LE中可见单个中央凹下CNV。总体而言,在30个月的随访期间,分别在RE和LE中分别进行了6次和9次玻璃体内雷珠单抗注射。随访结束时,RE中的BCVA为20/100,RE中的BCVA为20/200。该病例报告显示ABCA4基因突变可能由于多个和双侧CNV而变得复杂。玻璃体内注射雷珠单抗可以达到暂时的CNV稳定,但不能保证长期随访的完全静止。其他治疗方法对于实现视力保持可能是必要的。

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